Canonical Allele Identifier: CA4912709

Gene: NAPRT

Linked Data

• dbSNP Id: rs762166562
• ExAC: 8:144657610 C / G
• gnomAD v3: 8-143575440-C-G
• gnomAD v4: 8-143575440-C-G
• MyVariant Identifiers: chr8:g.144657610C>G (hg19) ; chr8:g.143575440C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143575440C>G , CM000670.2:g.143575440C>G	GRCh38
NC_000008.10:g.144657610C>G , CM000670.1:g.144657610C>G	GRCh37
NC_000008.9:g.144728753C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1274G>C MANE Select	ENSP00000401508.2:p.Arg425Pro
ENST00000340490.7:c.1274G>C	ENSP00000341136.3:p.Arg425Pro
ENST00000426292.7:c.1274G>C	ENSP00000390949.3:p.Arg425Pro
ENST00000435154.7:c.1274G>C	ENSP00000405670.3:p.Arg425Pro
ENST00000449291.6:c.1274G>C	ENSP00000401508.2:p.Arg425Pro
ENST00000460623.5:c.252G>C
ENST00000464332.5:n.818G>C
ENST00000525583.5:c.1058G>C
NM_001286829.1:c.1274G>C	NP_001273758.1:p.Arg425Pro
NM_145201.5:c.1274G>C	NP_660202.3:p.Arg425Pro
XM_011517377.1:c.1274G>C	XP_011515679.1:p.Arg425Pro
NM_001363145.1:c.1193G>C	NP_001350074.1:p.Arg398Pro
NM_001363146.1:c.590G>C	NP_001350075.1:p.Arg197Pro
XM_017013975.2:c.1493G>C	XP_016869464.1:p.Arg498Pro
XM_017013976.2:c.1493G>C	XP_016869465.1:p.Arg498Pro
XM_017013977.2:c.1193G>C	XP_016869466.1:p.Arg398Pro
XM_017013978.2:c.1493G>C	XP_016869467.1:p.Arg498Pro
XM_017013979.2:c.590G>C	XP_016869468.1:p.Arg197Pro
XM_024447332.1:c.911G>C	XP_024303100.1:p.Arg304Pro
XM_024447333.1:c.509G>C	XP_024303101.1:p.Arg170Pro
NM_145201.6:c.1274G>C MANE Select	NP_660202.3:p.Arg425Pro
NM_001286829.2:c.1274G>C	NP_001273758.1:p.Arg425Pro